RGD:155915795 Rat Genome Database

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Variant: RGD:155915795 -  Homo sapiens

RGD ID: 155915795
ClinVar ID: CV2239566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMO  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 241,753,516
GRCh38 1 241,590,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003679.5:c.1211C>G
NC_000001.11:g.241590214C>G
NC_000001.10:g.241753516C>G
NM_003679.3:c.1211C>G
More...
10/13/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KMO
Accession:NM_003679
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 404
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSVIQRKKVAVIGGGLVGSLQACFLAKRNFQIDVYEAREDTRVATFTRGRSINLALSHRGRQALKAVGLEDQIVSQGI
PMRARMIHSLSGKKSAIPYGTKSQYILSVSRENLNKDLLTAAEKYPNVKMHFNHRLLKCNPEEGMITVLGSDKVPKDVTC
DLIVGCDGAYSTVRSHLMKKPRFDYSQQYIPHGYMELTIPPKNGDYAMEPNYLHIWPRNTFMMIALPNMNKSFTCTLFMP
FEEFEKLLTSNDVVDFFQKYFPDAIPLIGEKLLVQDFFLLPAQPMISVKCSSFHFKSHCVLLGDAAHAIVPFFGQGMNAG
FEDCLVFDELMDKFSNDLSLCLPVFSRLRIPDDHAISDLSMYNYIEMRAHVNSSWFIFQKNMERFLHAIMPSTFIPLYTM
VTFCRIRYHEAVQRWHWQKKVINKGLFFLGSLIAISSTYLLIHYMSPRSFLRLRRPWNWIAHFRNTTCFPAKAVDSLEQI
SNLISR*

Gene Symbol:KMO
Accession:NM_001410944
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSVIQRKKVAVIGGGLVGSLQACFLAKRNFQIDVYEAREDTRVATFTRGRSINLALSHRGRQALKAVGLEDQIVSQGI
PMRARMIHSLSGKKSAIPYGTKSQYILSVSRENLNKDLLTAAEKYPNVKMHFNHRLLKCNPEEGMITVLGSDKVPKDVTC
DLIVGCDGAYSTVRSHLMKKPRFDYSQQYIPHGYMELTIPPKNGDYAMEPNYLHIWPRNTFMMIALPNMNKSFTCTLFMP
FEEFEKLLTSNDVVDFFQKYFPDAIPLIGEKLLVQDFFLLPAQPMISVKCSSFHFKSHCVLLGDAAHAIVPFFGQGMNAG
FEDCLVFDELMDKFSNDLSLCLPVFSRLRIPDDHAISDLSMYNYIEKNMERFLHAIMPSTFIPLYTMVTFCRIRYHEAVQ
RWHWQKKVINKGLFFLGSLIAISSTYLLIHYMSPRSFLRLRRPWNWIAHFRNTTCFPAKAVDSLEQISNLISR*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004114561 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KMO CLINVAR
OMIM 603538 CLINVAR